S75Y (p.Ser75Tyr) variant of RHEB (GTP-binding protein Rheb)
S75Y (p.Ser75Tyr) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
S75Y (p.Ser75Tyr) variant details
- p.Ser75Tyr
- gnomAD 7-151477384-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.61
- MetaLR 0.26
- MetaSVM -0.24
- CADD 23.60
- PolyPhen-2 0.98
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available